Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117660798_117670251delinsTAACT | CA2580076337 | CFTR | c.90-3890_368+4687delinsTAACT | ClinVar |
7 | g.117664610_117666141del | CA264802 | CFTR | c.*173-78_*451+577del c.*3678-78_*3956+577del c.3781-78_4059+577del c.*177-78_*455+577del c.*617-78_*895+577del c.*173-78_*452-507del c.3964-78_4242+577del c.*625-78_*903+577del c.*2339-78_*2617+577del c.3958-78_4236+577del c.*3788-78_*4066+577del c.3538-78_3816+577del n.2132-78_2987del c.828-78_1106+577del c.1751-78_2029+577del c.546-78_825-507del c.1414-78_1692+577del c.3874-78_4152+577del c.90-78_368+577del c.4054-78_4332+577del c.4054-78_4333-507del c.3721-78_3999+577del | ClinVar |
7 | g.117664686_117665563delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT | CA1737421696 | CFTR | c.*173-2_*450delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*3678-2_*3955delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3781-2_4058delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*177-2_*454delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*617-2_*894delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3964-2_4241delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*625-2_*902delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*2339-2_*2616delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3958-2_4235delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.*3788-2_*4065delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3538-2_3815delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT n.2132-2_2409delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.828-2_1105delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.1751-2_2028delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.546-2_823delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.1414-2_1691delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3874-2_4151delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.90-2_367delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.4054-2_4331delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT c.3721-2_3998delinsAGGTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTGGATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTTCTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGTGTGAGTTTCAGATGTTCTGTTACTTAATAGCACAGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGTGGGGGTCTCCCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTCTTGTGTTTTCTTCCGAAGATAGTTTTTAGTTTCATACAAACTCTTCCCCCTTGTCAACACATGATGAAGCTTTTAAATACATGGGCCTAATCTGATCCTTATGATTTGCCTTTGTATCCCATTTATACCATAAGCATGTTTATAGCCCCAAATAAAGAAGTACTGGTGATTCTACATAATGAAAAATGTACTCATTTATTAAAGTTTCTTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGGCTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGAGATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTTCTTTTCTAGAACATACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGTGAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTT | |
7 | g.117664688_117667108del | CA913189944 | CFTR | c.*173_*652del c.*3678_*4157del c.3781_4260del c.*177_*656del c.*617_*896-494del c.*173_*912del c.3964_*149del c.*625_*904-494del c.*2339_*2818del c.3958_4437del c.*3788_*4267del c.3538_4017del n.2132_3954del c.828_1307del c.1751_2030-494del c.546_1285del c.3964_4443del c.1414_1893del c.90_368+1544del c.4054_4533del c.3721_4200del | ClinVar |
7 | g.117664690_117665566del | CA913189945 | CFTR | c.*175_*451+2del c.*3680_*3956+2del c.3783_4059+2del c.*179_*455+2del c.*619_*895+2del c.3966_4242+2del c.*627_*903+2del c.*2341_*2617+2del c.3960_4236+2del c.*3790_*4066+2del c.3540_3816+2del n.2134_2412del c.830_1106+2del c.1753_2029+2del c.548_824+2del c.1416_1692+2del c.3876_4152+2del c.92_368+2del c.4056_4332+2del c.3723_3999+2del | ClinVar dbSNP |
7 | g.117664807C>A | CA457230443 | CFTR | c.*292C>A (n.*292C>A) c.*3797C>A (n.*3797C>A) c.3900C>A (p.Leu1300=) c.*296C>A (n.*296C>A) c.*736C>A (n.*736C>A) c.4083C>A (p.Leu1361=) c.*744C>A (n.*744C>A) c.*2458C>A (n.*2458C>A) c.4077C>A (p.Leu1359=) c.*3907C>A (n.*3907C>A) c.3657C>A (p.Leu1219=) n.2251C>A c.947C>A (n.947C>A) c.1870C>A (n.1870C>A) c.665C>A c.1533C>A c.3993C>A (p.Leu1331=) c.209C>A c.4173C>A (p.Leu1391=) c.3840C>A (p.Leu1280=) | |
7 | g.117664807C>G | CA457230440 | CFTR | c.*292C>G (n.*292C>G) c.*3797C>G (n.*3797C>G) c.3900C>G (p.Leu1300=) c.*296C>G (n.*296C>G) c.*736C>G (n.*736C>G) c.4083C>G (p.Leu1361=) c.*744C>G (n.*744C>G) c.*2458C>G (n.*2458C>G) c.4077C>G (p.Leu1359=) c.*3907C>G (n.*3907C>G) c.3657C>G (p.Leu1219=) n.2251C>G c.947C>G (n.947C>G) c.1870C>G (n.1870C>G) c.665C>G c.1533C>G c.3993C>G (p.Leu1331=) c.209C>G c.4173C>G (p.Leu1391=) c.3840C>G (p.Leu1280=) | |
7 | g.117664807C>T | CA457230444 | CFTR | c.*292C>T (n.*292C>T) c.*3797C>T (n.*3797C>T) c.3900C>T (p.Leu1300=) c.*296C>T (n.*296C>T) c.*736C>T (n.*736C>T) c.4083C>T (p.Leu1361=) c.*744C>T (n.*744C>T) c.*2458C>T (n.*2458C>T) c.4077C>T (p.Leu1359=) c.*3907C>T (n.*3907C>T) c.3657C>T (p.Leu1219=) n.2251C>T c.947C>T (n.947C>T) c.1870C>T (n.1870C>T) c.665C>T c.1533C>T c.3993C>T (p.Leu1331=) c.209C>T c.4173C>T (p.Leu1391=) c.3840C>T (p.Leu1280=) | ClinVar |
7 | g.117664808A>C | CA368982729 | CFTR | c.*293A>C (n.*293A>C) c.*3798A>C (n.*3798A>C) c.3901A>C (p.Ser1301Arg) c.*297A>C (n.*297A>C) c.*737A>C (n.*737A>C) c.4084A>C (p.Ser1362Arg) c.*745A>C (n.*745A>C) c.*2459A>C (n.*2459A>C) c.4078A>C (p.Ser1360Arg) c.*3908A>C (n.*3908A>C) c.3658A>C (p.Ser1220Arg) n.2252A>C c.948A>C (n.948A>C) c.1871A>C (n.1871A>C) c.666A>C c.1534A>C c.3994A>C (p.Ser1332Arg) c.210A>C c.4174A>C (p.Ser1392Arg) c.3841A>C (p.Ser1281Arg) | |
7 | g.117664808A>G | CA368982731 | CFTR | c.*293A>G (n.*293A>G) c.*3798A>G (n.*3798A>G) c.3901A>G (p.Ser1301Gly) c.*297A>G (n.*297A>G) c.*737A>G (n.*737A>G) c.4084A>G (p.Ser1362Gly) c.*745A>G (n.*745A>G) c.*2459A>G (n.*2459A>G) c.4078A>G (p.Ser1360Gly) c.*3908A>G (n.*3908A>G) c.3658A>G (p.Ser1220Gly) n.2252A>G c.948A>G (n.948A>G) c.1871A>G (n.1871A>G) c.666A>G c.1534A>G c.3994A>G (p.Ser1332Gly) c.210A>G c.4174A>G (p.Ser1392Gly) c.3841A>G (p.Ser1281Gly) | |
7 | g.117664808A>T | CA368982733 | CFTR | c.*293A>T (n.*293A>T) c.*3798A>T (n.*3798A>T) c.3901A>T (p.Ser1301Cys) c.*297A>T (n.*297A>T) c.*737A>T (n.*737A>T) c.4084A>T (p.Ser1362Cys) c.*745A>T (n.*745A>T) c.*2459A>T (n.*2459A>T) c.4078A>T (p.Ser1360Cys) c.*3908A>T (n.*3908A>T) c.3658A>T (p.Ser1220Cys) n.2252A>T c.948A>T (n.948A>T) c.1871A>T (n.1871A>T) c.666A>T c.1534A>T c.3994A>T (p.Ser1332Cys) c.210A>T c.4174A>T (p.Ser1392Cys) c.3841A>T (p.Ser1281Cys) | |
7 | g.117664809G>A | CA4451625 | CFTR | c.*294G>A (n.*294G>A) c.*3799G>A (n.*3799G>A) c.3902G>A (p.Ser1301Asn) c.*298G>A (n.*298G>A) c.*738G>A (n.*738G>A) c.4085G>A (p.Ser1362Asn) c.*746G>A (n.*746G>A) c.*2460G>A (n.*2460G>A) c.4079G>A (p.Ser1360Asn) c.*3909G>A (n.*3909G>A) c.3659G>A (p.Ser1220Asn) n.2253G>A c.949G>A (n.949G>A) c.1872G>A (n.1872G>A) c.667G>A c.1535G>A c.3995G>A (p.Ser1332Asn) c.211G>A c.4175G>A (p.Ser1392Asn) c.3842G>A (p.Ser1281Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117664809G>C | CA4451626 | CFTR | c.*294G>C (n.*294G>C) c.*3799G>C (n.*3799G>C) c.3902G>C (p.Ser1301Thr) c.*298G>C (n.*298G>C) c.*738G>C (n.*738G>C) c.4085G>C (p.Ser1362Thr) c.*746G>C (n.*746G>C) c.*2460G>C (n.*2460G>C) c.4079G>C (p.Ser1360Thr) c.*3909G>C (n.*3909G>C) c.3659G>C (p.Ser1220Thr) n.2253G>C c.949G>C (n.949G>C) c.1872G>C (n.1872G>C) c.667G>C c.1535G>C c.3995G>C (p.Ser1332Thr) c.211G>C c.4175G>C (p.Ser1392Thr) c.3842G>C (p.Ser1281Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117664809G= | CA1737422103 | CFTR | c.*294G= (n.*294G=) c.*3799G= (n.*3799G=) c.3902G= (p.Ser1301=) c.*298G= (n.*298G=) c.*738G= (n.*738G=) c.4085G= (p.Ser1362=) c.*746G= (n.*746G=) c.*2460G= (n.*2460G=) c.4079G= (p.Ser1360=) c.*3909G= (n.*3909G=) c.3659G= (p.Ser1220=) n.2253G= c.949G= (n.949G=) c.1872G= (n.1872G=) c.667G= c.1535G= c.3995G= (p.Ser1332=) c.211G= c.4175G= (p.Ser1392=) c.3842G= (p.Ser1281=) | |
7 | g.117664809G>T | CA368982736 | CFTR | c.*294G>T (n.*294G>T) c.*3799G>T (n.*3799G>T) c.3902G>T (p.Ser1301Ile) c.*298G>T (n.*298G>T) c.*738G>T (n.*738G>T) c.4085G>T (p.Ser1362Ile) c.*746G>T (n.*746G>T) c.*2460G>T (n.*2460G>T) c.4079G>T (p.Ser1360Ile) c.*3909G>T (n.*3909G>T) c.3659G>T (p.Ser1220Ile) n.2253G>T c.949G>T (n.949G>T) c.1872G>T (n.1872G>T) c.667G>T c.1535G>T c.3995G>T (p.Ser1332Ile) c.211G>T c.4175G>T (p.Ser1392Ile) c.3842G>T (p.Ser1281Ile) | |
7 | g.117664810T>A | CA368982739 | CFTR | c.*295T>A (n.*295T>A) c.*3800T>A (n.*3800T>A) c.3903T>A (p.Ser1301Arg) c.*299T>A (n.*299T>A) c.*739T>A (n.*739T>A) c.4086T>A (p.Ser1362Arg) c.*747T>A (n.*747T>A) c.*2461T>A (n.*2461T>A) c.4080T>A (p.Ser1360Arg) c.*3910T>A (n.*3910T>A) c.3660T>A (p.Ser1220Arg) n.2254T>A c.950T>A (n.950T>A) c.1873T>A (n.1873T>A) c.668T>A c.1536T>A c.3996T>A (p.Ser1332Arg) c.212T>A c.4176T>A (p.Ser1392Arg) c.3843T>A (p.Ser1281Arg) | |
7 | g.117664810T>C | CA457230450 | CFTR | c.*295T>C (n.*295T>C) c.*3800T>C (n.*3800T>C) c.3903T>C (p.Ser1301=) c.*299T>C (n.*299T>C) c.*739T>C (n.*739T>C) c.4086T>C (p.Ser1362=) c.*747T>C (n.*747T>C) c.*2461T>C (n.*2461T>C) c.4080T>C (p.Ser1360=) c.*3910T>C (n.*3910T>C) c.3660T>C (p.Ser1220=) n.2254T>C c.950T>C (n.950T>C) c.1873T>C (n.1873T>C) c.668T>C c.1536T>C c.3996T>C (p.Ser1332=) c.212T>C c.4176T>C (p.Ser1392=) c.3843T>C (p.Ser1281=) | |
7 | g.117664810T>G | CA368982742 | CFTR | c.*295T>G (n.*295T>G) c.*3800T>G (n.*3800T>G) c.3903T>G (p.Ser1301Arg) c.*299T>G (n.*299T>G) c.*739T>G (n.*739T>G) c.4086T>G (p.Ser1362Arg) c.*747T>G (n.*747T>G) c.*2461T>G (n.*2461T>G) c.4080T>G (p.Ser1360Arg) c.*3910T>G (n.*3910T>G) c.3660T>G (p.Ser1220Arg) n.2254T>G c.950T>G (n.950T>G) c.1873T>G (n.1873T>G) c.668T>G c.1536T>G c.3996T>G (p.Ser1332Arg) c.212T>G c.4176T>G (p.Ser1392Arg) c.3843T>G (p.Ser1281Arg) | |
7 | g.117664810dup | CA327394 | CFTR | c.*295dup (n.*295dup) c.*3800dup (n.*3800dup) c.3903dup (p.Lys1302Ter) c.*299dup (n.*299dup) c.*739dup (n.*739dup) c.4086dup (p.Lys1363Ter) c.*747dup (n.*747dup) c.*2461dup (n.*2461dup) c.4080dup (p.Lys1361Ter) c.*3910dup (n.*3910dup) c.3660dup (p.Lys1221Ter) n.2254dup c.950dup (n.950dup) c.1873dup (n.1873dup) c.668dup c.1536dup c.3996dup (p.Lys1333Ter) c.212dup c.4176dup (p.Lys1393Ter) c.3843dup (p.Lys1282Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117664811A= | CA1737422115 | CFTR | c.*296A= (n.*296A=) c.*3801A= (n.*3801A=) c.3904A= (p.Lys1302=) c.*300A= (n.*300A=) c.*740A= (n.*740A=) c.4087A= (p.Lys1363=) c.*748A= (n.*748A=) c.*2462A= (n.*2462A=) c.4081A= (p.Lys1361=) c.*3911A= (n.*3911A=) c.3661A= (p.Lys1221=) n.2255A= c.951A= (n.951A=) c.1874A= (n.1874A=) c.669A= c.1537A= c.3997A= (p.Lys1333=) c.213A= c.4177A= (p.Lys1393=) c.3844A= (p.Lys1282=) | |
7 | g.117664811A>C | CA16612022 | CFTR | c.*296A>C (n.*296A>C) c.*3801A>C (n.*3801A>C) c.3904A>C (p.Lys1302Gln) c.*300A>C (n.*300A>C) c.*740A>C (n.*740A>C) c.4087A>C (p.Lys1363Gln) c.*748A>C (n.*748A>C) c.*2462A>C (n.*2462A>C) c.4081A>C (p.Lys1361Gln) c.*3911A>C (n.*3911A>C) c.3661A>C (p.Lys1221Gln) n.2255A>C c.951A>C (n.951A>C) c.1874A>C (n.1874A>C) c.669A>C c.1537A>C c.3997A>C (p.Lys1333Gln) c.213A>C c.4177A>C (p.Lys1393Gln) c.3844A>C (p.Lys1282Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117664811A>G | CA368982743 | CFTR | c.*296A>G (n.*296A>G) c.*3801A>G (n.*3801A>G) c.3904A>G (p.Lys1302Glu) c.*300A>G (n.*300A>G) c.*740A>G (n.*740A>G) c.4087A>G (p.Lys1363Glu) c.*748A>G (n.*748A>G) c.*2462A>G (n.*2462A>G) c.4081A>G (p.Lys1361Glu) c.*3911A>G (n.*3911A>G) c.3661A>G (p.Lys1221Glu) n.2255A>G c.951A>G (n.951A>G) c.1874A>G (n.1874A>G) c.669A>G c.1537A>G c.3997A>G (p.Lys1333Glu) c.213A>G c.4177A>G (p.Lys1393Glu) c.3844A>G (p.Lys1282Glu) | |
7 | g.117664811A>T | CA368982744 | CFTR | c.*296A>T (n.*296A>T) c.*3801A>T (n.*3801A>T) c.3904A>T (p.Lys1302Ter) c.*300A>T (n.*300A>T) c.*740A>T (n.*740A>T) c.4087A>T (p.Lys1363Ter) c.*748A>T (n.*748A>T) c.*2462A>T (n.*2462A>T) c.4081A>T (p.Lys1361Ter) c.*3911A>T (n.*3911A>T) c.3661A>T (p.Lys1221Ter) n.2255A>T c.951A>T (n.951A>T) c.1874A>T (n.1874A>T) c.669A>T c.1537A>T c.3997A>T (p.Lys1333Ter) c.213A>T c.4177A>T (p.Lys1393Ter) c.3844A>T (p.Lys1282Ter) | |
7 | g.117664812A= | CA1737422120 | CFTR | c.*297A= (n.*297A=) c.*3802A= (n.*3802A=) c.3905A= (p.Lys1302=) c.*301A= (n.*301A=) c.*741A= (n.*741A=) c.4088A= (p.Lys1363=) c.*749A= (n.*749A=) c.*2463A= (n.*2463A=) c.4082A= (p.Lys1361=) c.*3912A= (n.*3912A=) c.3662A= (p.Lys1221=) n.2256A= c.952A= (n.952A=) c.1875A= (n.1875A=) c.670A= c.1538A= c.3998A= (p.Lys1333=) c.214A= c.4178A= (p.Lys1393=) c.3845A= (p.Lys1282=) | |
7 | g.117664812A>C | CA368982746 | CFTR | c.*297A>C (n.*297A>C) c.*3802A>C (n.*3802A>C) c.3905A>C (p.Lys1302Thr) c.*301A>C (n.*301A>C) c.*741A>C (n.*741A>C) c.4088A>C (p.Lys1363Thr) c.*749A>C (n.*749A>C) c.*2463A>C (n.*2463A>C) c.4082A>C (p.Lys1361Thr) c.*3912A>C (n.*3912A>C) c.3662A>C (p.Lys1221Thr) n.2256A>C c.952A>C (n.952A>C) c.1875A>C (n.1875A>C) c.670A>C c.1538A>C c.3998A>C (p.Lys1333Thr) c.214A>C c.4178A>C (p.Lys1393Thr) c.3845A>C (p.Lys1282Thr) | |
7 | g.117664812A>G | CA368982749 | CFTR | c.*297A>G (n.*297A>G) c.*3802A>G (n.*3802A>G) c.3905A>G (p.Lys1302Arg) c.*301A>G (n.*301A>G) c.*741A>G (n.*741A>G) c.4088A>G (p.Lys1363Arg) c.*749A>G (n.*749A>G) c.*2463A>G (n.*2463A>G) c.4082A>G (p.Lys1361Arg) c.*3912A>G (n.*3912A>G) c.3662A>G (p.Lys1221Arg) n.2256A>G c.952A>G (n.952A>G) c.1875A>G (n.1875A>G) c.670A>G c.1538A>G c.3998A>G (p.Lys1333Arg) c.214A>G c.4178A>G (p.Lys1393Arg) c.3845A>G (p.Lys1282Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117664812A>T | CA368982752 | CFTR | c.*297A>T (n.*297A>T) c.*3802A>T (n.*3802A>T) c.3905A>T (p.Lys1302Met) c.*301A>T (n.*301A>T) c.*741A>T (n.*741A>T) c.4088A>T (p.Lys1363Met) c.*749A>T (n.*749A>T) c.*2463A>T (n.*2463A>T) c.4082A>T (p.Lys1361Met) c.*3912A>T (n.*3912A>T) c.3662A>T (p.Lys1221Met) n.2256A>T c.952A>T (n.952A>T) c.1875A>T (n.1875A>T) c.670A>T c.1538A>T c.3998A>T (p.Lys1333Met) c.214A>T c.4178A>T (p.Lys1393Met) c.3845A>T (p.Lys1282Met) | |
7 | g.117664813G>A | CA457230466 | CFTR | c.*298G>A (n.*298G>A) c.*3803G>A (n.*3803G>A) c.3906G>A (p.Lys1302=) c.*302G>A (n.*302G>A) c.*742G>A (n.*742G>A) c.4089G>A (p.Lys1363=) c.*750G>A (n.*750G>A) c.*2464G>A (n.*2464G>A) c.4083G>A (p.Lys1361=) c.*3913G>A (n.*3913G>A) c.3663G>A (p.Lys1221=) n.2257G>A c.953G>A (n.953G>A) c.1876G>A (n.1876G>A) c.671G>A c.1539G>A c.3999G>A (p.Lys1333=) c.215G>A c.4179G>A (p.Lys1393=) c.3846G>A (p.Lys1282=) | dbSNP |
7 | g.117664813G>C | CA368982760 | CFTR | c.*298G>C (n.*298G>C) c.*3803G>C (n.*3803G>C) c.3906G>C (p.Lys1302Asn) c.*302G>C (n.*302G>C) c.*742G>C (n.*742G>C) c.4089G>C (p.Lys1363Asn) c.*750G>C (n.*750G>C) c.*2464G>C (n.*2464G>C) c.4083G>C (p.Lys1361Asn) c.*3913G>C (n.*3913G>C) c.3663G>C (p.Lys1221Asn) n.2257G>C c.953G>C (n.953G>C) c.1876G>C (n.1876G>C) c.671G>C c.1539G>C c.3999G>C (p.Lys1333Asn) c.215G>C c.4179G>C (p.Lys1393Asn) c.3846G>C (p.Lys1282Asn) | |
7 | g.117664813G= | CA1737422122 | CFTR | c.*298G= (n.*298G=) c.*3803G= (n.*3803G=) c.3906G= (p.Lys1302=) c.*302G= (n.*302G=) c.*742G= (n.*742G=) c.4089G= (p.Lys1363=) c.*750G= (n.*750G=) c.*2464G= (n.*2464G=) c.4083G= (p.Lys1361=) c.*3913G= (n.*3913G=) c.3663G= (p.Lys1221=) n.2257G= c.953G= (n.953G=) c.1876G= (n.1876G=) c.671G= c.1539G= c.3999G= (p.Lys1333=) c.215G= c.4179G= (p.Lys1393=) c.3846G= (p.Lys1282=) | |
7 | g.117664813G>T | CA368982761 | CFTR | c.*298G>T (n.*298G>T) c.*3803G>T (n.*3803G>T) c.3906G>T (p.Lys1302Asn) c.*302G>T (n.*302G>T) c.*742G>T (n.*742G>T) c.4089G>T (p.Lys1363Asn) c.*750G>T (n.*750G>T) c.*2464G>T (n.*2464G>T) c.4083G>T (p.Lys1361Asn) c.*3913G>T (n.*3913G>T) c.3663G>T (p.Lys1221Asn) n.2257G>T c.953G>T (n.953G>T) c.1876G>T (n.1876G>T) c.671G>T c.1539G>T c.3999G>T (p.Lys1333Asn) c.215G>T c.4179G>T (p.Lys1393Asn) c.3846G>T (p.Lys1282Asn) | |
7 | g.117664814del | CA2579000416 | CFTR | c.*299del (n.*299del) c.*3804del (n.*3804del) c.3907del (p.Ala1303ArgfsTer16) c.*303del (n.*303del) c.*743del (n.*743del) c.4090del (p.Ala1364ArgfsTer16) c.*751del (n.*751del) c.*2465del (n.*2465del) c.4084del (p.Ala1362ArgfsTer16) c.*3914del (n.*3914del) c.3664del (p.Ala1222ArgfsTer16) n.2258del c.954del (n.954del) c.1877del (n.1877del) c.672del c.1540del c.4000del (p.Ala1334ArgfsTer16) c.216del c.4180del (p.Ala1394ArgfsTer16) c.3847del (p.Ala1283ArgfsTer16) | |
7 | g.117664814G>A | CA368982763 | CFTR | c.*299G>A (n.*299G>A) c.*3804G>A (n.*3804G>A) c.3907G>A (p.Ala1303Thr) c.*303G>A (n.*303G>A) c.*743G>A (n.*743G>A) c.4090G>A (p.Ala1364Thr) c.*751G>A (n.*751G>A) c.*2465G>A (n.*2465G>A) c.4084G>A (p.Ala1362Thr) c.*3914G>A (n.*3914G>A) c.3664G>A (p.Ala1222Thr) n.2258G>A c.954G>A (n.954G>A) c.1877G>A (n.1877G>A) c.672G>A c.1540G>A c.4000G>A (p.Ala1334Thr) c.216G>A c.4180G>A (p.Ala1394Thr) c.3847G>A (p.Ala1283Thr) | |
7 | g.117664814G>C | CA368982767 | CFTR | c.*299G>C (n.*299G>C) c.*3804G>C (n.*3804G>C) c.3907G>C (p.Ala1303Pro) c.*303G>C (n.*303G>C) c.*743G>C (n.*743G>C) c.4090G>C (p.Ala1364Pro) c.*751G>C (n.*751G>C) c.*2465G>C (n.*2465G>C) c.4084G>C (p.Ala1362Pro) c.*3914G>C (n.*3914G>C) c.3664G>C (p.Ala1222Pro) n.2258G>C c.954G>C (n.954G>C) c.1877G>C (n.1877G>C) c.672G>C c.1540G>C c.4000G>C (p.Ala1334Pro) c.216G>C c.4180G>C (p.Ala1394Pro) c.3847G>C (p.Ala1283Pro) | |
7 | g.117664814G>T | CA368982770 | CFTR | c.*299G>T (n.*299G>T) c.*3804G>T (n.*3804G>T) c.3907G>T (p.Ala1303Ser) c.*303G>T (n.*303G>T) c.*743G>T (n.*743G>T) c.4090G>T (p.Ala1364Ser) c.*751G>T (n.*751G>T) c.*2465G>T (n.*2465G>T) c.4084G>T (p.Ala1362Ser) c.*3914G>T (n.*3914G>T) c.3664G>T (p.Ala1222Ser) n.2258G>T c.954G>T (n.954G>T) c.1877G>T (n.1877G>T) c.672G>T c.1540G>T c.4000G>T (p.Ala1334Ser) c.216G>T c.4180G>T (p.Ala1394Ser) c.3847G>T (p.Ala1283Ser) | |
7 | g.117664815C>A | CA368982778 | CFTR | c.*300C>A (n.*300C>A) c.*3805C>A (n.*3805C>A) c.3908C>A (p.Ala1303Glu) c.*304C>A (n.*304C>A) c.*744C>A (n.*744C>A) c.4091C>A (p.Ala1364Glu) c.*752C>A (n.*752C>A) c.*2466C>A (n.*2466C>A) c.4085C>A (p.Ala1362Glu) c.*3915C>A (n.*3915C>A) c.3665C>A (p.Ala1222Glu) n.2259C>A c.955C>A (n.955C>A) c.1878C>A (n.1878C>A) c.673C>A c.1541C>A c.4001C>A (p.Ala1334Glu) c.217C>A c.4181C>A (p.Ala1394Glu) c.3848C>A (p.Ala1283Glu) | |
7 | g.117664815C= | CA1737422128 | CFTR | c.*300C= (n.*300C=) c.*3805C= (n.*3805C=) c.3908C= (p.Ala1303=) c.*304C= (n.*304C=) c.*744C= (n.*744C=) c.4091C= (p.Ala1364=) c.*752C= (n.*752C=) c.*2466C= (n.*2466C=) c.4085C= (p.Ala1362=) c.*3915C= (n.*3915C=) c.3665C= (p.Ala1222=) n.2259C= c.955C= (n.955C=) c.1878C= (n.1878C=) c.673C= c.1541C= c.4001C= (p.Ala1334=) c.217C= c.4181C= (p.Ala1394=) c.3848C= (p.Ala1283=) | |
7 | g.117664815C>G | CA368982782 | CFTR | c.*300C>G (n.*300C>G) c.*3805C>G (n.*3805C>G) c.3908C>G (p.Ala1303Gly) c.*304C>G (n.*304C>G) c.*744C>G (n.*744C>G) c.4091C>G (p.Ala1364Gly) c.*752C>G (n.*752C>G) c.*2466C>G (n.*2466C>G) c.4085C>G (p.Ala1362Gly) c.*3915C>G (n.*3915C>G) c.3665C>G (p.Ala1222Gly) n.2259C>G c.955C>G (n.955C>G) c.1878C>G (n.1878C>G) c.673C>G c.1541C>G c.4001C>G (p.Ala1334Gly) c.217C>G c.4181C>G (p.Ala1394Gly) c.3848C>G (p.Ala1283Gly) | |
7 | g.117664815C>T | CA327395 | CFTR | c.*300C>T (n.*300C>T) c.*3805C>T (n.*3805C>T) c.3908C>T (p.Ala1303Val) c.*304C>T (n.*304C>T) c.*744C>T (n.*744C>T) c.4091C>T (p.Ala1364Val) c.*752C>T (n.*752C>T) c.*2466C>T (n.*2466C>T) c.4085C>T (p.Ala1362Val) c.*3915C>T (n.*3915C>T) c.3665C>T (p.Ala1222Val) n.2259C>T c.955C>T (n.955C>T) c.1878C>T (n.1878C>T) c.673C>T c.1541C>T c.4001C>T (p.Ala1334Val) c.217C>T c.4181C>T (p.Ala1394Val) c.3848C>T (p.Ala1283Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117664816G>A | CA260250 | CFTR | c.*301G>A (n.*301G>A) c.*3806G>A (n.*3806G>A) c.3909G>A (p.Ala1303=) c.*305G>A (n.*305G>A) c.*745G>A (n.*745G>A) c.4092G>A (p.Ala1364=) c.*753G>A (n.*753G>A) c.*2467G>A (n.*2467G>A) c.4086G>A (p.Ala1362=) c.*3916G>A (n.*3916G>A) c.3666G>A (p.Ala1222=) n.2260G>A c.956G>A (n.956G>A) c.1879G>A (n.1879G>A) c.674G>A c.1542G>A c.4002G>A (p.Ala1334=) c.218G>A c.4182G>A (p.Ala1394=) c.3849G>A (p.Ala1283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117664816G>C | CA457230481 | CFTR | c.*301G>C (n.*301G>C) c.*3806G>C (n.*3806G>C) c.3909G>C (p.Ala1303=) c.*305G>C (n.*305G>C) c.*745G>C (n.*745G>C) c.4092G>C (p.Ala1364=) c.*753G>C (n.*753G>C) c.*2467G>C (n.*2467G>C) c.4086G>C (p.Ala1362=) c.*3916G>C (n.*3916G>C) c.3666G>C (p.Ala1222=) n.2260G>C c.956G>C (n.956G>C) c.1879G>C (n.1879G>C) c.674G>C c.1542G>C c.4002G>C (p.Ala1334=) c.218G>C c.4182G>C (p.Ala1394=) c.3849G>C (p.Ala1283=) | |
7 | g.117664816G= | CA1737422138 | CFTR | c.*301G= (n.*301G=) c.*3806G= (n.*3806G=) c.3909G= (p.Ala1303=) c.*305G= (n.*305G=) c.*745G= (n.*745G=) c.4092G= (p.Ala1364=) c.*753G= (n.*753G=) c.*2467G= (n.*2467G=) c.4086G= (p.Ala1362=) c.*3916G= (n.*3916G=) c.3666G= (p.Ala1222=) n.2260G= c.956G= (n.956G=) c.1879G= (n.1879G=) c.674G= c.1542G= c.4002G= (p.Ala1334=) c.218G= c.4182G= (p.Ala1394=) c.3849G= (p.Ala1283=) | |
7 | g.117664816G>T | CA457230479 | CFTR | c.*301G>T (n.*301G>T) c.*3806G>T (n.*3806G>T) c.3909G>T (p.Ala1303=) c.*305G>T (n.*305G>T) c.*745G>T (n.*745G>T) c.4092G>T (p.Ala1364=) c.*753G>T (n.*753G>T) c.*2467G>T (n.*2467G>T) c.4086G>T (p.Ala1362=) c.*3916G>T (n.*3916G>T) c.3666G>T (p.Ala1222=) n.2260G>T c.956G>T (n.956G>T) c.1879G>T (n.1879G>T) c.674G>T c.1542G>T c.4002G>T (p.Ala1334=) c.218G>T c.4182G>T (p.Ala1394=) c.3849G>T (p.Ala1283=) | |
7 | g.117664817A>C | CA368982786 | CFTR | c.*302A>C (n.*302A>C) c.*3807A>C (n.*3807A>C) c.3910A>C (p.Lys1304Gln) c.*306A>C (n.*306A>C) c.*746A>C (n.*746A>C) c.4093A>C (p.Lys1365Gln) c.*754A>C (n.*754A>C) c.*2468A>C (n.*2468A>C) c.4087A>C (p.Lys1363Gln) c.*3917A>C (n.*3917A>C) c.3667A>C (p.Lys1223Gln) n.2261A>C c.957A>C (n.957A>C) c.1880A>C (n.1880A>C) c.675A>C c.1543A>C c.4003A>C (p.Lys1335Gln) c.219A>C c.4183A>C (p.Lys1395Gln) c.3850A>C (p.Lys1284Gln) | |
7 | g.117664817A>G | CA368982795 | CFTR | c.*302A>G (n.*302A>G) c.*3807A>G (n.*3807A>G) c.3910A>G (p.Lys1304Glu) c.*306A>G (n.*306A>G) c.*746A>G (n.*746A>G) c.4093A>G (p.Lys1365Glu) c.*754A>G (n.*754A>G) c.*2468A>G (n.*2468A>G) c.4087A>G (p.Lys1363Glu) c.*3917A>G (n.*3917A>G) c.3667A>G (p.Lys1223Glu) n.2261A>G c.957A>G (n.957A>G) c.1880A>G (n.1880A>G) c.675A>G c.1543A>G c.4003A>G (p.Lys1335Glu) c.219A>G c.4183A>G (p.Lys1395Glu) c.3850A>G (p.Lys1284Glu) | ClinVar |
7 | g.117664817A>T | CA368982788 | CFTR | c.*302A>T (n.*302A>T) c.*3807A>T (n.*3807A>T) c.3910A>T (p.Lys1304Ter) c.*306A>T (n.*306A>T) c.*746A>T (n.*746A>T) c.4093A>T (p.Lys1365Ter) c.*754A>T (n.*754A>T) c.*2468A>T (n.*2468A>T) c.4087A>T (p.Lys1363Ter) c.*3917A>T (n.*3917A>T) c.3667A>T (p.Lys1223Ter) n.2261A>T c.957A>T (n.957A>T) c.1880A>T (n.1880A>T) c.675A>T c.1543A>T c.4003A>T (p.Lys1335Ter) c.219A>T c.4183A>T (p.Lys1395Ter) c.3850A>T (p.Lys1284Ter) | |
7 | g.117664818A>C | CA368982801 | CFTR | c.*303A>C (n.*303A>C) c.*3808A>C (n.*3808A>C) c.3911A>C (p.Lys1304Thr) c.*307A>C (n.*307A>C) c.*747A>C (n.*747A>C) c.4094A>C (p.Lys1365Thr) c.*755A>C (n.*755A>C) c.*2469A>C (n.*2469A>C) c.4088A>C (p.Lys1363Thr) c.*3918A>C (n.*3918A>C) c.3668A>C (p.Lys1223Thr) n.2262A>C c.958A>C (n.958A>C) c.1881A>C (n.1881A>C) c.676A>C c.1544A>C c.4004A>C (p.Lys1335Thr) c.220A>C c.4184A>C (p.Lys1395Thr) c.3851A>C (p.Lys1284Thr) | |
7 | g.117664818A>G | CA368982803 | CFTR | c.*303A>G (n.*303A>G) c.*3808A>G (n.*3808A>G) c.3911A>G (p.Lys1304Arg) c.*307A>G (n.*307A>G) c.*747A>G (n.*747A>G) c.4094A>G (p.Lys1365Arg) c.*755A>G (n.*755A>G) c.*2469A>G (n.*2469A>G) c.4088A>G (p.Lys1363Arg) c.*3918A>G (n.*3918A>G) c.3668A>G (p.Lys1223Arg) n.2262A>G c.958A>G (n.958A>G) c.1881A>G (n.1881A>G) c.676A>G c.1544A>G c.4004A>G (p.Lys1335Arg) c.220A>G c.4184A>G (p.Lys1395Arg) c.3851A>G (p.Lys1284Arg) | |
7 | g.117664818A>T | CA368982805 | CFTR | c.*303A>T (n.*303A>T) c.*3808A>T (n.*3808A>T) c.3911A>T (p.Lys1304Met) c.*307A>T (n.*307A>T) c.*747A>T (n.*747A>T) c.4094A>T (p.Lys1365Met) c.*755A>T (n.*755A>T) c.*2469A>T (n.*2469A>T) c.4088A>T (p.Lys1363Met) c.*3918A>T (n.*3918A>T) c.3668A>T (p.Lys1223Met) n.2262A>T c.958A>T (n.958A>T) c.1881A>T (n.1881A>T) c.676A>T c.1544A>T c.4004A>T (p.Lys1335Met) c.220A>T c.4184A>T (p.Lys1395Met) c.3851A>T (p.Lys1284Met) | |
7 | g.117664819G>A | CA4451627 | CFTR | c.*304G>A (n.*304G>A) c.*3809G>A (n.*3809G>A) c.3912G>A (p.Lys1304=) c.*308G>A (n.*308G>A) c.*748G>A (n.*748G>A) c.4095G>A (p.Lys1365=) c.*756G>A (n.*756G>A) c.*2470G>A (n.*2470G>A) c.4089G>A (p.Lys1363=) c.*3919G>A (n.*3919G>A) c.3669G>A (p.Lys1223=) n.2263G>A c.959G>A (n.959G>A) c.1882G>A (n.1882G>A) c.677G>A c.1545G>A c.4005G>A (p.Lys1335=) c.221G>A c.4185G>A (p.Lys1395=) c.3852G>A (p.Lys1284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |